Send us a text Gaucher disease is a rare lysosomal storage disorder that presents with varying prevalence and management approaches across Nordic countries. Despite geographical proximity, these countries show notable differences in disease presentation, diagnostic approaches, and patient care pathways. This episode explores these unique challenges and opportunities while identifying potential areas for collaborative improvement in patient care across Scandinavia. Tune in to discover how this...
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Send us a text Gaucher disease is a rare lysosomal storage disorder that presents with varying prevalence and management approaches across Nordic countries. Despite geographical proximity, these countries show notable differences in disease presentation, diagnostic approaches, and patient care pathways. This episode explores these unique challenges and opportunities while identifying potential areas for collaborative improvement in patient care across Scandinavia. Tune in to discover how this...
Causes, symptoms and diagnosing ASMD – A rare lysosomal storage disorder
The Hematology Podcast
38 minutes
2 years ago
Causes, symptoms and diagnosing ASMD – A rare lysosomal storage disorder
Today we will discuss a rare, inherited metabolic disorder known as ASMD, acid sphingomyelinase deficiency (or historically known as Niemann-Pick types A, A/B, and B). This genetic condition is very rare. It can be diagnosed, after suspicion, by different screening test. But symptoms may vary greatly, and has overlap with several other disorders, and the road to an accurate diagnosis can therefore be challenging. In today’s episode we have the pleasure of welcoming Professor David Cassim...
The Hematology Podcast
Send us a text Gaucher disease is a rare lysosomal storage disorder that presents with varying prevalence and management approaches across Nordic countries. Despite geographical proximity, these countries show notable differences in disease presentation, diagnostic approaches, and patient care pathways. This episode explores these unique challenges and opportunities while identifying potential areas for collaborative improvement in patient care across Scandinavia. Tune in to discover how this...
